| 1 | SLC3A1
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| Water and urea permeation pathways of the human excitatory amino acid transporter EAAT1.
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| Vandenberg RJ, Handford CA, Campbell EM, Ryan RM, Yool AJ.
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| Biochem J 439(2):333-40. doi: 10.1042/BJ20110905.
2011
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| 2 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
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| Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L.
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| Mol Genet Metab 99(1):42-52. Epub .PMID: 19782624 2010
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| 3 | SLC1A3, SLC3A1
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| Expression of EAAT-1 distinguishes choroid plexus tumors from normal and reactive choroid plexus epithelium.
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| Beschorner R, Pantazis G, Jeibmann A, Boy J, Meyermann R, Mittelbronn M, Schittenhelm J.
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| Acta Neuropathol 117(6):667-75. Epub 2009 Mar 13. 2009
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| 4 | HCYS, PREPL, SLC3A1, C2orf34
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| Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
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| Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.
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| J Med Genet 45(5):314-8. Epub 2008 Jan 30. 2008
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| 5 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
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| Chatzikyriakidou A, Louizou E, Dedousis GV, Bisceglia L, Michelakakis H, Georgiou I.
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| Mol Genet Metab 95(3):192-3. Epub 2008 Sep 7. No abstract available. 2008
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| 6 | CSNU1, SLC3A1
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| Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
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| Bartoccioni P, Rius M, Zorzano A, Palacín M, Chillarón J.
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| Hum Mol Genet 17(12):1845-54. Epub 2008 Mar 10.
2008
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| 7 | SLC3A1, PREPL, HCYS
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| Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
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| Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, Francois I, de Zegher F, Jaeken J, Matthijs G, Creemers JW.
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| Eur J Hum Genet 15(10):1029-1033. Epub 2007 Jun 20. 2007
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| 8 | SLC1A3, SLC3A1
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| Mutations in transmembrane domains 5 and 7 of the human excitatory amino acid transporter 1 affect the substrate-activated anion channel.
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| Huang S, Vandenberg RJ.
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| Biochemistry 46(34):9685-92. Epub 2007 Aug 4. 2007
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| 9 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
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| Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V.
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| J Med Genet 42(1):58-68. 2005
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| 10 | SLC3A1, CSNU1
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| Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.
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| Guillen M, Corella D, Cabello ML, Gonzalez JI, Sabater A, Chaves JF, Hernandez-Yago J.
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| Clin Genet 67(3):240-51. 2005
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| 11 | HCYS,PPM1B,PREPL,SLC3A1
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| The 2p21 deletion syndrome: characterization of the transcription content.
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| Parvari R, Gonen Y, Alshafee I, Buriakovsky S, Regev K, Hershkovitz E.
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| Genomics 86(2):195-211. 2005
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| 12 | CSNU1, SLC3A1, SLC7A9, CSNU3
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| Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
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| Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft fur Padiatrische Nephrologie.
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| Kidney Int 64(5):1564-72. 2003
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| 13 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
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| Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacin M, Rizzoni G.
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| J Am Soc Nephrol 13(10):2547-53. 2002
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| 14 | CSNU1, SLC3A1
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| Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.
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| Guillen M, Corella D, Cabello ML, Garcia AM, Portoles O, Hernandez-Yago J.
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| Hum Genet 106(3):314-20. 2000
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| 15 | SLC3A1
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| Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.
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| Egoshi KI, Akakura K, Kodama T, Ito H.
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| Kidney Int 57(1):25-32. 2000
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| 16 | CSNU1, SLC3A1
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| Molecular genetics of cystinuria : mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.
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| Saadi U, et al.
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| Kidney Int 54 : 48-55. 1998
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| 17 | CSNU1, SLC3A1
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| Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria.
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| Gitomer WL, et al.
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| J Clin Endocrinol Metab 83 : 3688-3694. 1998
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| 18 | CSNU1, SLC3A1
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| Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.
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| Endsley JK, Phillips JA 3rd, Hruska KA, Denneberg T, Carlson J, George AL Jr.
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| Kidney Int 51(6):1893-9. 1997
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| 19 | SLC3A1, CSNU1
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| Molecular genetics of cystinuria in French Canadians : identification of four novel mutations in type I patients.
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| Horsford J, et al.
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| Kidney Int 49 : 1401-1406. 1996
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| 20 | SLC3A1
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| The rBAT gene is responsible for L-cystine uptake via the b0,+-like amino acid transport system in a renal proximal tubular cell line (OK cells).
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| Mora C, et al.
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| J Biol Chem 271 : 10569-10576. 1996
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| 21 | SLC3A1, CSNU1
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| Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.
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| Pras E, et al.
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| Genomics 36 : 163-167. 1996
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| 22 | SLC3A1, CSNU1
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| Molecular analysis of the cystinuria disease gene : identification of four new mutations, one large deletion, and one polymorphism.
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| Bisceglia L, et al.
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| Hum Genet 98 : 447-451. 1996
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| 23 | SLC3A1, CSNU1
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| Genomic structure and organization of the human rBAT gene (SLC3A1).
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| Purroy J, et al.
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| Genomics 37 : 249-252. 1996
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| 24 | SLC3A1, CSNU1
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| Molecular genetics of cystinuria : identification of four new mutations and seven polymorphisms and evidence for genetic heterogeneity.
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| Gasparini P, et al.
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| Am J Hum Genet 57 : 781-788. 1995
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| 25 | CSNU1, SLC3A1
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| Genetic heterogeneity in cystinuria : The SLC3A1 gene is linked to type I but not to type III cystinuria.
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| Calonge MJ, et al.
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| Proc Natl Acad Sci U S A 92 : 9667-9671. 1995
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| 26 | CSNU1, SLC3A1
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| Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.
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| Calonge MJ, et al.
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| Hum Genet 95 : 633-636. 1995
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| 27 | CSNU1, SLC3A1
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| Mutations in the SLC3A1 transporter gene in cystinuria.
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| Pras E, et al.
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| Am J Hum Genet 56 : 1297-1303. 1995
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| 28 | SLC3A1
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| Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.
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| Calonge MJ, et al.
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| Nat Genet 6 : 420-425. 1994
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| 29 | CSNU1, SLC3A1
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| Mutations in the SLC3A1 gene and the molecular basis of cystinuria. (abstr)
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| Pras E, et al.
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| Am J Hum Genet 55 : A236. 1994
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| 30 | CSNU1, SLC3A1
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| Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization.
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| Zhang XX, et al.
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| Genomics 24 : 413-414. 1994
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| 31 | SLC3A1
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| Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes.
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| Bertran J, et al.
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| J Biol Chem 268 : 14842-14849. 1993
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| 32 | SLC3A1
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| Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport.
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| Lee WS, et al.
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| J Clin Invest 91 : 1959-1963. 1993
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| 33 | SLC3A1
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| Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes.
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| Bertran J, Werner A, Chillarón J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacín M.
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| J Biol Chem 268(20):14842-9.
1993
|